Disease: Acid-Labile Subunit Deficiency ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs774634302
rs774634302
Entrez Id: 3483;90864
Gene Symbol: IGFALS;SPSB3
IGFALS;SPSB3
CUI: C3900122
Disease:
Acid-Labile Subunit Deficiency 		0.700 GeneticVariation UNIPROT A novel mutation in IGFALS, c.380T>C (p.L127P), associated with short stature, delayed puberty, osteopenia and hyperinsulinaemia in two siblings: insights into the roles of insulin growth factor-1 (IGF1). 23488611 2013
dbSNP: rs774634302
rs774634302
Entrez Id: 3483;90864
Gene Symbol: IGFALS;SPSB3
IGFALS;SPSB3
CUI: C3900122
Disease:
Acid-Labile Subunit Deficiency 		0.700 GeneticVariation UNIPROT Acid-labile subunit (ALS) deficiency. 21396577 2011
dbSNP: rs774634302
rs774634302
Entrez Id: 3483;90864
Gene Symbol: IGFALS;SPSB3
IGFALS;SPSB3
CUI: C3900122
Disease:
Acid-Labile Subunit Deficiency 		0.700 GeneticVariation UNIPROT Acid-labile subunit deficiency and growth failure: description of two novel cases. 20389102 2010
dbSNP: rs774634302
rs774634302
Entrez Id: 3483;90864
Gene Symbol: IGFALS;SPSB3
IGFALS;SPSB3
CUI: C3900122
Disease:
Acid-Labile Subunit Deficiency 		0.700 GeneticVariation UNIPROT Three novel IGFALS gene mutations resulting in total ALS and severe circulating IGF-I/IGFBP-3 deficiency in children of different ethnic origins. 19129715 2009
dbSNP: rs774634302
rs774634302
Entrez Id: 3483;90864
Gene Symbol: IGFALS;SPSB3
IGFALS;SPSB3
CUI: C3900122
Disease:
Acid-Labile Subunit Deficiency 		0.700 GeneticVariation UNIPROT Primary acid-labile subunit deficiency due to recessive IGFALS mutations results in postnatal growth deficit associated with low circulating insulin growth factor (IGF)-I, IGF binding protein-3 levels, and hyperinsulinemia. 18303074 2008
dbSNP: rs774634302
rs774634302
Entrez Id: 3483;90864
Gene Symbol: IGFALS;SPSB3
IGFALS;SPSB3
CUI: C3900122
Disease:
Acid-Labile Subunit Deficiency 		0.700 GeneticVariation UNIPROT Phenotypic effects of null and haploinsufficiency of acid-labile subunit in a family with two novel IGFALS gene mutations. 17726072 2007
dbSNP: rs774634302
rs774634302
Entrez Id: 3483;90864
Gene Symbol: IGFALS;SPSB3
IGFALS;SPSB3
CUI: C3900122
Disease:
Acid-Labile Subunit Deficiency 		0.700 GeneticVariation UNIPROT Total absence of functional acid labile subunit, resulting in severe insulin-like growth factor deficiency and moderate growth failure. 16507628 2006
dbSNP: rs774634302
rs774634302
Entrez Id: 3483;90864
Gene Symbol: IGFALS;SPSB3
IGFALS;SPSB3
CUI: C3900122
Disease:
Acid-Labile Subunit Deficiency 		0.700 GeneticVariation UNIPROT Deficiency of the circulating insulin-like growth factor system associated with inactivation of the acid-labile subunit gene. 14762184 2004